Dubowitz syndrome


Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance (small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.) Symptoms vary among patients, but other characteristics include a soft, high pitched voice; partial webbing of fingers and toes; palate deformations; genital abnormalities; eczema; hyperactivity; preference for concrete thinking over abstract; language difficulties and aversion to crowds. The pathogenesis of the disease is yet to be identified and no medical tests can definitively diagnose the disease. The main method of diagnosis is through identification of facial phenotype.


The symptoms of people diagnosed with Dubowitz syndrome vary considerably. However, the most common physical characteristics associated with Dubowitz syndrome are growth retardation, characteristic facial appearance, and a very small head (microcephaly). A wide variety of secondary physical characteristics may be present.


Cases of Dubowitz syndrome have been reported from many different regions of the world with the majority coming from the United States, Germany, and Russia. There does not appear to be any clear-cut ethnic pattern to the incidence of the syndrome. Dubowitz syndrome appears to affect males and females with equal probability. The overall incidence of the disorder has not been established since it is very rare. Only about 142 cases have been reported worldwide.